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Pathophysiology/Congenital and Genetic Disorders

by Scott
Across
Mitochondrial DNA mutations generally influence tissues that are dependent on oxidative ____________ to meet energy needs.
The mating of two related people is also this kind of mating.
Also called this type of chest deformity, pectus excavatum.
This condition causes tumors to develop from Schwann cells of the nervous system.
This syndrome is a group of physical, behavioral and cognitive fetal abnormalities related to alcohol ingestion during pregnancy. Abbreviation.
This spinal cord defect can result from folic acid deficiency.
Diagnostic procedure that draws fluid from the uterus; transabdominal.
This syndrome is also called trisomy 13.
This term refers to the presence of only one member of a chromosome pair.
Genetic term describing a eukaryotic cell whose copies of mitochondrial DNA are all identical.
The presence of more than two chromosomes to a set; occurs when a germ cell has more than 23 chromosomes.
This syndrome is also known as 45,X0. Female is partly or completely missing an X chromosome.
Down
In trisomy 21, the slanted eye appearance originates from these folds.
This condition signifies a lack of phenylalanine hydroxylase.
Short limb dwarfism is called this.
This syndrome is an autosomal dominant disorder of connective tissue.
These disorders are almost always associated with the X, or female, chromosome with an inheritance pattern that is usually recessive.
Abnormal number of chromosomes.
In Marfan disease, the most common eye disorder is bilateral dislocation of the lens due to weakness in these ligaments.
This drug has a strong association with the development of phocomelia.
This syndrome is a condition of testicular dysgenesis with the presence of one or more X chromosomes in excess of the normal male XY complement.
Prenatal screening test that determines the risk of having a child with Down syndrome; measurement of this substance, alpha ___________.
Heavy doses of ionizing radiation are considered this especially during pregnancy.
Term for spider fingers.
A very common lip or palate defect.
General term for different cells in the same individual have different numbers or arrangements of chromosomes.
This X syndrome is considered a single gene disorder, resulting in intellectual disability; characterized by amplification of a CGG repeat.
Congenital absence of one or both ears.
This type of fusion is another name for a robertsonian translocation involving two acrocentric chromosomes where the centromere is near the end.
Those with trisomy 21 have this syndrome.